This is a case of a 27-year-old G1 P0 who came at 12 weeks for the first trimester ultrasound scan. Patient's personal and family history was non-contributive. Her partner went through the chemotherapy treatment during the time of conception.
The ultrasound showed increased nuchal translucency, NT=2.95 mm and abnormal Doppler of ductus venosus. Nasal bone was present and there was no tricuspid valve regurgitation. The posterior fossa of the brain looked abnormal but there were otherwise no other apparent malformations.
Blood testing: PAPP-A: 0.158 MoM, free Beta hCG: 0.676 MoM.
Patient agreed on performing a CVS (chorionic villus sampling). The karyotype was 69 XXX, triploidy.